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Caudal regression syndrome

Other Names for this Disease
  • Caudal dysplasia
  • Caudal regression sequence
  • Sacral agenesis
  • Sacral agenesis syndrome
  • Sacral regression syndrome
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What causes caudal regression syndrome?

In many cases, the underlying cause of caudal regression syndrome (CRS) remains unclear.[1] It is thought to be a multifactorial disorder, which means that multiple factors (genetic and environmental) likely interact to predispose an individual to being affected.[2]

Up to 22% of cases of CRS are associated with diabetes mellitus in the mother during pregnancy.[2][1] However, CRS also occurs in infants of non-diabetic mothers. There is ongoing research to identify other factors that may increase the risk of CRS, as well as the proportion of cases attributable to these factors.

Some researchers believe there is a disruption of mesoderm development in the fetus, which impairs the normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system.[2] Others have suggested it may result from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus.[2] It may also be caused by a combination of these.[2] Inconclusive studies have implicated that some teratogens may play a role in CRS.[1]

The varieties of malformations, the numerous organ systems involved, and the lack of presence of identical abnormalities in subsequent pregnancies have generally not supported the notion that there is a specific genetic cause of CRS.[1] However, one case of an affected girl with a mutation in the VANGL1 gene has been reported.[3]
Last updated: 9/28/2012

  1. Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care. April 2009; 9(2):61-69.
  2. Caudal regression syndrome. Genetics Home Reference. January 2012; Accessed 9/25/2012.
  3. SACRAL DEFECT WITH ANTERIOR MENINGOCELE. OMIM. January 11, 2012; Accessed 9/25/2012.
  4. Sylvie Odent. Caudal regression sequence. Orphanet. April 2010; Accessed 9/25/2012.